Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 31 Records) |
Query Trace: Encephalomyopathy[original query] |
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Point mutations of muscle mitochondrial DNA from patients with mitochondrial encephalomyopathies. Chinese medical journal 2002 1 114 (12): 1273-5. Song D, Zhang Y, Shi J, Lü Q, Chen J, Zhang H, Zhang W, Wang H, Cai |
Clinical features of A3243G mitochondrial tRNA mutation. Brain & development 2004 Oct 26 (7): 459-62. Chae Jong Hee, Hwang Hee, Lim Byung Chan, Cheong Hae Il, Hwang Yong Seung, Kim Ki Joo |
Molecular epidemiology of childhood mitochondrial encephalomyopathies in a Finnish population: sequence analysis of entire mtDNA of 17 children reveals heteroplasmic mutations in tRNAArg, tRNAGlu, and tRNALeu(UUR) genes. Pediatrics 2004 Aug 114 (2): 443-50. Uusimaa Johanna, Finnilä Saara, Remes Anne M, Rantala Heikki, Vainionpää Leena, Hassinen Ilmo E, Majamaa Ka |
Diabetes mellitus with mitochondrial gene mutations in Japan. Annals of the New York Academy of Sciences 2004 Apr 1011 (): 185-92. Suzuki Susu |
[Study on mitochondrial DNA gene tRNA(Leu(UUR)) A3243G mutation in type 2 diabetes mellitus]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2004 Apr 21 (2): 168-70. Zhang XY, Zhang SL, Ke BS, Jiang ZS, Sun R |
[Phenotype heterogeneity associated with mitochondrial DNA A3243G mutation]. Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae 2005 Feb 27 (1): 77-80. Zhang Ying, Wang Zhao-xia, Niu Shu-lan, Xu Yu-feng, Pei Pei, Yuan Yun, Yang Yan-ling, Qi |
Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome. Molecular genetics and metabolism 2005 Apr 84 (4): 326-31. Slama A, Lacroix C, Plante-Bordeneuve V, Lombès A, Conti M, Reimund J M, Auxenfants E, Crenn P, Laforêt P, Joannard A, Seguy D, Pillant H, Joly P, Haut S, Messing B, Said G, Legrand A, Guiochon-Mantel |
Rapid and sensitive real-time polymerase chain reaction method for detection and quantification of 3243A>G mitochondrial point mutation. The Journal of molecular diagnostics : JMD 2006 May 8 (2): 225-30. Singh Rinki, Ellard Sian, Hattersley Andrew, Harries Lorna |
Detection of common disease-causing mutations in mitochondrial DNA (mitochondrial encephalomyopathy, lactic acidosis with stroke-like episodes MTTL1 3243 A>G and myoclonic epilepsy associated with ragged-red fibers MTTK 8344A>G) by real-time polymerase chain reaction. The Journal of molecular diagnostics : JMD 2006 May 8 (2): 277-81. Fan Hongxin, Civalier Chris, Booker Jessica K, Gulley Margaret L, Prior Thomas W, Farber Rosann |
The mitochondrial 13513G > A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff-Parkinson-White. European journal of human genetics : EJHG 2007 Feb 15 (2): 155-61. Ruiter E Mariken, Siers Marloes H, van den Elzen Christa, van Engelen Baziel G, Smeitink Jan A M, Rodenburg Richard J, Hol Frans |
Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease. Journal of medical genetics 2007 Apr 44 (4): e74. Blok M J, Spruijt L, de Coo I F M, Schoonderwoerd K, Hendrickx A, Smeets H |
Mitochondrial DNA A3243G mutation involved in familial diabetes, chronic intestinal pseudo-obstruction and recurrent pancreatitis. Diabetes & metabolism 2008 Dec 34 (6 Pt 1): 620-6. Verny C, Amati-Bonneau P, Letournel F, Person B, Dib N, Malinge M-C, Slama A, Le Maréchal C, Ferec C, Procaccio V, Reynier P, Bonneau |
Protean phenotypic features of the A3243G mitochondrial DNA mutation. Archives of neurology 2009 Jan 66 (1): 85-91. Kaufmann Petra, Engelstad Kristin, Wei Ying, Kulikova Romana, Oskoui Maryam, Battista Vanessa, Koenigsberger Dorcas Y, Pascual Juan M, Sano Mary, Hirano Michio, DiMauro Salvatore, Shungu Dikoma C, Mao Xiangling, De Vivo Darryl |
[Screening of mitochondrial deoxyribonucleic acid 3271T > C, 8356T > C, 9176T > C/G and 13513G > A mutations in mitochondrial encephalomyopathies]. Zhonghua yi xue za zhi 2011 Apr 91 (14): 969-72. Xu Jian-biao, Ma Yi-nan, Pan Hong, Zheng Xue-fei, Zhang Ying, Wang Song-tao, Bu Ding-fang, Qi |
Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype. Neurology 2011 Nov 77 (22): 1965-71. Kaufmann P, Engelstad K, Wei Y, Kulikova R, Oskoui M, Sproule D M, Battista V, Koenigsberger D Y, Pascual J M, Shanske S, Sano M, Mao X, Hirano M, Shungu D C, Dimauro S, De Vivo D |
High risk of severe cardiac adverse events in patients with mitochondrial m.3243A>G mutation. Neurology 2013 Jan 80 (1): 100-5. Malfatti Edoardo, Laforêt Pascal, Jardel Claude, Stojkovic Tanya, Behin Anthony, Eymard Bruno, Lombès Anne, Benmalek Amria, Bécane Henri-Marc, Berber Nawal, Meune Christophe, Duboc Denis, Wahbi Kar |
Neuroimaging characteristics in mitochondrial encephalopathies associated with the m.3243A>G MTTL1 mutation. Journal of neurology 2013 Apr 260 (4): 1071-80. Tschampa Henriette J, Urbach Horst, Greschus Susanne, Kunz Wolfram S, Kornblum Cornel |
The 9-bp deletion in region V of mtDNA: a risk factor of hearing loss and encephalomyopathy in Caucasian populations? Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2013 Jul 34 (7): 1223-6. Borgione Eugenia, Lo Giudice Mariangela, Castello Filippa, Musumeci Sebastiano A, Di Blasi Francesco D, Savio Maria, Elia Maurizio, Rizzo Biagio, Barbarino Giuliano, Romano Salvatore, Calabrese Giuseppe, Di Benedetto Daniela, Scuderi Carme |
Mitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel Phenotypes. JIMD reports 2015 23 91-100. Komulainen Tuomas, Hautakangas Milla-Riikka, Hinttala Reetta, Pakanen Salla, Vähäsarja Vesa, Lehenkari Petri, Olsen Päivi, Vieira Päivi, Saarenpää-Heikkilä Outi, Palmio Johanna, Tuominen Hannu, Kinnunen Pietari, Majamaa Kari, Rantala Heikki, Uusimaa Johan |
Additive effect of nuclear and mitochondrial mutations in a patient with mitochondrial encephalomyopathy. Human molecular genetics 2015 Mar . Nesti Claudia, Meschini Maria Chiara, Meunier Brigitte, Sacchini Michele, Doccini Stefano, Romano Alessandro, Petrillo Sara, Pezzini Ilaria, Seddiki Nadir, Rubegni Anna, Piemonte Fiorella, Donati M Alice, Brasseur Gael, Santorelli Filippo |
Analysis of association among clinical features and shorter leukocyte telomere length in mitochondrial diabetes with m.3243A>G mitochondrial DNA mutation. BMC medical genetics 2015 16 (1): 92. Zhou Mei-Cen, Min Rui, Ji Jian-Jun, Zhang Shi, Tong An-Li, Xu Jian-Ping, Li Zeng-Yi, Zhang Hua-Bing, Li Yu-X |
Ophthalmological characteristics in children with Leigh syndrome - A long-term follow-up. Acta ophthalmologica 2016 Feb . Åkebrand Rebecka, Andersson Susann, Seyedi Honarvar Antovan K, Sofou Kalliopi, Darin Niklas, Tulinius Mar, Grönlund Marita Anderss |
Correlation of Serum Biomarkers and Magnetic Resonance Spectroscopy in Monitoring Disease Progression in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes Due to mtDNA A3243G Mutation. Frontiers in neurology 2018 8 9 621. Lee Ha Neul, Yoon Choon-Sik, Lee Young-Mo |
The Usefulness of Muscle Biopsy in Initial Diagnostic Evaluation of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes. Yonsei medical journal 2018 12 60 (1): 98-105. Baek Min Seong, Kim Se Hoon, Lee Young Mo |
Expanding and validating the biomarkers for mitochondrial diseases. Journal of molecular medicine (Berlin, Germany) 2020 8 98 (10): 1467-1478. Maresca Alessandra, Del Dotto Valentina, Romagnoli Martina, La Morgia Chiara, Di Vito Lidia, Capristo Mariantonietta, Valentino Maria Lucia, Carelli Valerio, |
Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS-associated mtDNA mutations. Annals of clinical and translational neurology 2021 5 8 (6): 1200-1211. Gramegna Laura L, Evangelisti Stefania, Di Vito Lidia, La Morgia Chiara, Maresca Alessandra, Caporali Leonardo, Amore Giulia, Talozzi Lia, Bianchini Claudio, Testa Claudia, Manners David N, Cortesi Irene, Valentino Maria L, Liguori Rocco, Carelli Valerio, Tonon Caterina, Lodi Raffae |
MELAS/LS Overlap Syndrome Associated With Mitochondrial DNA Mutations: Clinical, Genetic, and Radiological Studies. Frontiers in neurology 2021 5 12 648740. Wei Yanping, Huang Yan, Yang Yingmai, Qian M |
Hematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalopathy: A single-center experience underscoring the multiple factors involved in the prognosis. Pediatric blood & cancer 2021 2 68 (5): e28926. Zaidman Irina, Elhasid Ronit, Gefen Aharon, Yahav Dovrat Anat, Mutaz Sultan, Shaoul Ron, Eshach Adiv Orly, Mandel Hanna, Tal Gal |
Proteomic Analysis of m.8296A>G Variation in the Mitochondrial tRNA Gene. Molecular syndromology 2022 9 13 (4): 305-317. Mara? Genç Hülya, Akp?nar Gürler, Kasap Murat, Uyur Yalç?n Emek, Üstek Duran, Aslanger Ayça Dilruba, Kara Büle |
NOTCH2NLC GGC Repeat Expansion in Patients With Vascular Leukoencephalopathy. Stroke 2023 3 . Liao Yi-Chu, Wei Cheng-Yu, Chang Fu-Pang, Chou Ying-Tsen, Hsu Shao-Lun, Chung Chih-Ping, Mizuguchi Takeshi, Matsumoto Naomichi, Yet Shaw-Fang, Lee Yi-Chu |
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- Page last updated:May 06, 2024
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